Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders

Amstutz, Ursula; Andrey-Zürcher, Gisela; Suciu, Dominic; Jaggi, Rolf; Häberle, Johannes; Largiadèr, Carlo R (2011). Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders. Clinical chemistry, 57(1), pp. 102-11. Washington, D.C.: American Association for Clinical Chemistry 10.1373/clinchem.2010.150706

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Molecular genetic testing is commonly used to confirm clinical diagnoses of inherited urea cycle disorders (UCDs); however, conventional mutation screenings encompassing only the coding regions of genes may not detect disease-causing mutations occurring in regulatory elements and introns. Microarray-based target enrichment and next-generation sequencing now allow more-comprehensive genetic screening. We applied this approach to UCDs and combined it with the use of DNA bar codes for more cost-effective, parallel analyses of multiple samples.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Forschungsbereich Pathologie > Forschungsgruppe Molekularbiologie
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry

UniBE Contributor:

Jaggi, Rolf and Largiadèr, Carlo Rodolfo

ISSN:

0009-9147

Publisher:

American Association for Clinical Chemistry

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:21

Last Modified:

06 Dec 2013 13:27

Publisher DOI:

10.1373/clinchem.2010.150706

PubMed ID:

21068339

Web of Science ID:

000285686100017

URI:

https://boris.unibe.ch/id/eprint/7004 (FactScience: 212139)

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